Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302177_6302191dup | CA549707932 | WFS1 | c.2418_2432dup (p.Thr811_Lys812insGluAspAspValThr) c.2359_2373dup c.2382_2396dup (p.Thr799_Lys800insGluAspAspValThr) c.2133_2147dup (p.Thr716_Lys717insGluAspAspValThr) n.2567_2581dup c.2391_2405dup (p.Thr802_Lys803insGluAspAspValThr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302188_6302218del | CA913107300 | WFS1 | c.2429_2459del (p.Val810AlafsTer?) c.2370_2400del c.2393_2423del (p.Val798AlafsTer?) c.2144_2174del (p.Val715AlafsTer?) n.2578_2608del c.2402_2432del (p.Val801AlafsTer?) | |
4 | g.6302189C>A | CA438368284 | WFS1 | c.2430C>A (p.Val810=) c.2371C>A c.2394C>A (p.Val798=) c.2145C>A (p.Val715=) n.2579C>A c.2403C>A (p.Val801=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302189C= | CA1435772455 | WFS1 | c.2430C= (p.Val810=) c.2371C= c.2394C= (p.Val798=) c.2145C= (p.Val715=) n.2579C= c.2403C= (p.Val801=) | |
4 | g.6302189C>G | CA438368285 | WFS1 | c.2430C>G (p.Val810=) c.2371C>G c.2394C>G (p.Val798=) c.2145C>G (p.Val715=) n.2579C>G c.2403C>G (p.Val801=) | dbSNP gnomAD v4 |
4 | g.6302189C>T | CA438368286 | WFS1 | c.2430C>T (p.Val810=) c.2371C>T c.2394C>T (p.Val798=) c.2145C>T (p.Val715=) n.2579C>T c.2403C>T (p.Val801=) | ClinVar gnomAD v4 |
4 | g.6302190A= | CA1435772456 | WFS1 | c.2431A= (p.Thr811=) c.2372A= c.2395A= (p.Thr799=) c.2146A= (p.Thr716=) n.2580A= c.2404A= (p.Thr802=) | |
4 | g.6302190A>C | CA356178498 | WFS1 | c.2431A>C (p.Thr811Pro) c.2372A>C c.2395A>C (p.Thr799Pro) c.2146A>C (p.Thr716Pro) n.2580A>C c.2404A>C (p.Thr802Pro) | |
4 | g.6302190A>G | CA356178499 | WFS1 | c.2431A>G (p.Thr811Ala) c.2372A>G c.2395A>G (p.Thr799Ala) c.2146A>G (p.Thr716Ala) n.2580A>G c.2404A>G (p.Thr802Ala) | |
4 | g.6302190A>T | CA356178500 | WFS1 | c.2431A>T (p.Thr811Ser) c.2372A>T c.2395A>T (p.Thr799Ser) c.2146A>T (p.Thr716Ser) n.2580A>T c.2404A>T (p.Thr802Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302191C>A | CA356178501 | WFS1 | c.2432C>A (p.Thr811Asn) c.2373C>A c.2396C>A (p.Thr799Asn) c.2147C>A (p.Thr716Asn) n.2581C>A c.2405C>A (p.Thr802Asn) | |
4 | g.6302191C>G | CA356178502 | WFS1 | c.2432C>G (p.Thr811Ser) c.2373C>G c.2396C>G (p.Thr799Ser) c.2147C>G (p.Thr716Ser) n.2581C>G c.2405C>G (p.Thr802Ser) | gnomAD v4 |
4 | g.6302191C>T | CA356178503 | WFS1 | c.2432C>T (p.Thr811Ile) c.2373C>T c.2396C>T (p.Thr799Ile) c.2147C>T (p.Thr716Ile) n.2581C>T c.2405C>T (p.Thr802Ile) | |
4 | g.6302192C>A | CA438368288 | WFS1 | c.2433C>A (p.Thr811=) c.2374C>A c.2397C>A (p.Thr799=) c.2148C>A (p.Thr716=) n.2582C>A c.2406C>A (p.Thr802=) | gnomAD v4 |
4 | g.6302192C= | CA1435772458 | WFS1 | c.2433C= (p.Thr811=) c.2374C= c.2397C= (p.Thr799=) c.2148C= (p.Thr716=) n.2582C= c.2406C= (p.Thr802=) | |
4 | g.6302192C>G | CA2839721 | WFS1 | c.2433C>G (p.Thr811=) c.2374C>G c.2397C>G (p.Thr799=) c.2148C>G (p.Thr716=) n.2582C>G c.2406C>G (p.Thr802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302192C>T | CA438368287 | WFS1 | c.2433C>T (p.Thr811=) c.2374C>T c.2397C>T (p.Thr799=) c.2148C>T (p.Thr716=) n.2582C>T c.2406C>T (p.Thr802=) | dbSNP |
4 | g.6302193A= | CA1435772461 | WFS1 | c.2434A= (p.Lys812=) c.2375A= c.2398A= (p.Lys800=) c.2149A= (p.Lys717=) n.2583A= c.2407A= (p.Lys803=) | |
4 | g.6302193A>C | CA356178505 | WFS1 | c.2434A>C (p.Lys812Gln) c.2375A>C c.2398A>C (p.Lys800Gln) c.2149A>C (p.Lys717Gln) n.2583A>C c.2407A>C (p.Lys803Gln) | |
4 | g.6302193A>G | CA321406 | WFS1 | c.2434A>G (p.Lys812Glu) c.2375A>G c.2398A>G (p.Lys800Glu) c.2149A>G (p.Lys717Glu) n.2583A>G c.2407A>G (p.Lys803Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302193A>T | CA356178504 | WFS1 | c.2434A>T (p.Lys812Ter) c.2375A>T c.2398A>T (p.Lys800Ter) c.2149A>T (p.Lys717Ter) n.2583A>T c.2407A>T (p.Lys803Ter) | |
4 | g.6302194A>C | CA356178506 | WFS1 | c.2435A>C (p.Lys812Thr) c.2376A>C c.2399A>C (p.Lys800Thr) c.2150A>C (p.Lys717Thr) n.2584A>C c.2408A>C (p.Lys803Thr) | |
4 | g.6302194A>G | CA356178507 | WFS1 | c.2435A>G (p.Lys812Arg) c.2376A>G c.2399A>G (p.Lys800Arg) c.2150A>G (p.Lys717Arg) n.2584A>G c.2408A>G (p.Lys803Arg) | |
4 | g.6302194A>T | CA356178508 | WFS1 | c.2435A>T (p.Lys812Met) c.2376A>T c.2399A>T (p.Lys800Met) c.2150A>T (p.Lys717Met) n.2584A>T c.2408A>T (p.Lys803Met) | |
4 | g.6302195G>A | CA438368289 | WFS1 | c.2436G>A (p.Lys812=) c.2377G>A c.2400G>A (p.Lys800=) c.2151G>A (p.Lys717=) n.2585G>A c.2409G>A (p.Lys803=) | |
4 | g.6302195G>C | CA356178509 | WFS1 | c.2436G>C (p.Lys812Asn) c.2377G>C c.2400G>C (p.Lys800Asn) c.2151G>C (p.Lys717Asn) n.2585G>C c.2409G>C (p.Lys803Asn) | |
4 | g.6302195G>T | CA356178510 | WFS1 | c.2436G>T (p.Lys812Asn) c.2377G>T c.2400G>T (p.Lys800Asn) c.2151G>T (p.Lys717Asn) n.2585G>T c.2409G>T (p.Lys803Asn) | |
4 | g.6302196G>A | CA356178512 | WFS1 | c.2437G>A (p.Asp813Asn) c.2378G>A c.2401G>A (p.Asp801Asn) c.2152G>A (p.Asp718Asn) n.2586G>A c.2410G>A (p.Asp804Asn) | |
4 | g.6302196G>C | CA356178511 | WFS1 | c.2437G>C (p.Asp813His) c.2378G>C c.2401G>C (p.Asp801His) c.2152G>C (p.Asp718His) n.2586G>C c.2410G>C (p.Asp804His) | |
4 | g.6302196G= | CA1435772462 | WFS1 | c.2437G= (p.Asp813=) c.2378G= c.2401G= (p.Asp801=) c.2152G= (p.Asp718=) n.2586G= c.2410G= (p.Asp804=) | |
4 | g.6302196G>T | CA2839722 | WFS1 | c.2437G>T (p.Asp813Tyr) c.2378G>T c.2401G>T (p.Asp801Tyr) c.2152G>T (p.Asp718Tyr) n.2586G>T c.2410G>T (p.Asp804Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302197A>C | CA356178513 | WFS1 | c.2438A>C (p.Asp813Ala) c.2379A>C c.2402A>C (p.Asp801Ala) c.2153A>C (p.Asp718Ala) n.2587A>C c.2411A>C (p.Asp804Ala) | |
4 | g.6302197A>G | CA356178514 | WFS1 | c.2438A>G (p.Asp813Gly) c.2379A>G c.2402A>G (p.Asp801Gly) c.2153A>G (p.Asp718Gly) n.2587A>G c.2411A>G (p.Asp804Gly) | |
4 | g.6302197A>T | CA356178515 | WFS1 | c.2438A>T (p.Asp813Val) c.2379A>T c.2402A>T (p.Asp801Val) c.2153A>T (p.Asp718Val) n.2587A>T c.2411A>T (p.Asp804Val) | |
4 | g.6302198C>A | CA356178516 | WFS1 | c.2439C>A (p.Asp813Glu) c.2380C>A c.2403C>A (p.Asp801Glu) c.2154C>A (p.Asp718Glu) n.2588C>A c.2412C>A (p.Asp804Glu) | |
4 | g.6302198C>G | CA356178517 | WFS1 | c.2439C>G (p.Asp813Glu) c.2380C>G c.2403C>G (p.Asp801Glu) c.2154C>G (p.Asp718Glu) n.2588C>G c.2412C>G (p.Asp804Glu) | |
4 | g.6302198C>T | CA438368290 | WFS1 | c.2439C>T (p.Asp813=) c.2380C>T c.2403C>T (p.Asp801=) c.2154C>T (p.Asp718=) n.2588C>T c.2412C>T (p.Asp804=) | |
4 | g.6302199A= | CA1435772464 | WFS1 | c.2440A= (p.Ile814=) c.2381A= c.2404A= (p.Ile802=) c.2155A= (p.Ile719=) n.2589A= c.2413A= (p.Ile805=) | |
4 | g.6302199A>C | CA356178518 | WFS1 | c.2440A>C (p.Ile814Leu) c.2381A>C c.2404A>C (p.Ile802Leu) c.2155A>C (p.Ile719Leu) n.2589A>C c.2413A>C (p.Ile805Leu) | |
4 | g.6302199A>G | CA2839723 | WFS1 | c.2440A>G (p.Ile814Val) c.2381A>G c.2404A>G (p.Ile802Val) c.2155A>G (p.Ile719Val) n.2589A>G c.2413A>G (p.Ile805Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302199A>T | CA356178519 | WFS1 | c.2440A>T (p.Ile814Phe) c.2381A>T c.2404A>T (p.Ile802Phe) c.2155A>T (p.Ile719Phe) n.2589A>T c.2413A>T (p.Ile805Phe) | |
4 | g.6302200T>A | CA356178520 | WFS1 | c.2441T>A (p.Ile814Asn) c.2382T>A c.2405T>A (p.Ile802Asn) c.2156T>A (p.Ile719Asn) n.2590T>A c.2414T>A (p.Ile805Asn) | |
4 | g.6302200T>C | CA356178521 | WFS1 | c.2441T>C (p.Ile814Thr) c.2382T>C c.2405T>C (p.Ile802Thr) c.2156T>C (p.Ile719Thr) n.2590T>C c.2414T>C (p.Ile805Thr) | ClinVar dbSNP |
4 | g.6302200T>G | CA356178522 | WFS1 | c.2441T>G (p.Ile814Ser) c.2382T>G c.2405T>G (p.Ile802Ser) c.2156T>G (p.Ile719Ser) n.2590T>G c.2414T>G (p.Ile805Ser) | |
4 | g.6302200T= | CA1435772465 | WFS1 | c.2441T= (p.Ile814=) c.2382T= c.2405T= (p.Ile802=) c.2156T= (p.Ile719=) n.2590T= c.2414T= (p.Ile805=) | |
4 | g.6302201C>A | CA438368291 | WFS1 | c.2442C>A (p.Ile814=) c.2383C>A c.2406C>A (p.Ile802=) c.2157C>A (p.Ile719=) n.2591C>A c.2415C>A (p.Ile805=) | gnomAD v4 |
4 | g.6302201C= | CA1435772467 | WFS1 | c.2442C= (p.Ile814=) c.2383C= c.2406C= (p.Ile802=) c.2157C= (p.Ile719=) n.2591C= c.2415C= (p.Ile805=) | |
4 | g.6302201C>G | CA2839724 | WFS1 | c.2442C>G (p.Ile814Met) c.2383C>G c.2406C>G (p.Ile802Met) c.2157C>G (p.Ile719Met) n.2591C>G c.2415C>G (p.Ile805Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302201C>T | CA179677 | WFS1 | c.2442C>T (p.Ile814=) c.2383C>T c.2406C>T (p.Ile802=) c.2157C>T (p.Ile719=) n.2591C>T c.2415C>T (p.Ile805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302202G>A | CA2839725 | WFS1 | c.2443G>A (p.Val815Met) c.2384G>A c.2407G>A (p.Val803Met) c.2158G>A (p.Val720Met) n.2592G>A c.2416G>A (p.Val806Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |